Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518844
rs1057518844
2 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0
dbSNP: rs1057518956
rs1057518956
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs523096
rs523096
7 0.827 0.080 9 22019130 intron variant A/G snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs3213787
rs3213787
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.800 1.000 1 2011 2011
dbSNP: rs879255525
rs879255525
1 1.000 0.040 1 171636617 stop gained T/A snv 4.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs1013278
rs1013278
1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1015213
rs1015213
6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10152898
rs10152898
1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10281637
rs10281637
2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs10505100
rs10505100
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs10918274
rs10918274
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs10965219
rs10965219
4 0.882 0.080 9 22053688 intron variant A/G snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs11024102
rs11024102
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11217878
rs11217878
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs113432289
rs113432289
1 1.000 0.040 7 22253498 intron variant A/C snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs113985657
rs113985657
2 1.000 0.040 6 597203 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs11710139
rs11710139
1 1.000 0.040 3 150341555 non coding transcript exon variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12150284
rs12150284
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12377624
rs12377624
2 1.000 0.040 9 126610831 intron variant G/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs12440667
rs12440667
2 1.000 0.040 15 73939098 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs12699251
rs12699251
1 1.000 0.040 7 11639486 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs12913832
rs12913832
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018